Incidental Mutation 'R4402:Slc9b2'
| ID |
326660 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc9b2
|
| Ensembl Gene |
ENSMUSG00000037994 |
| Gene Name |
solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2 |
| Synonyms |
NHE10, NHA2, nha-oc, C80638, Nhedc2 |
| MMRRC Submission |
042003-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4402 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
135013083-135048606 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 135042305 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 528
(V528A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060640
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051849]
[ENSMUST00000145195]
|
| AlphaFold |
Q5BKR2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051849
AA Change: V528A
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000060640
Gene: ENSMUSG00000037994
AA Change: V528A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
83 |
102 |
N/A |
INTRINSIC |
|
Pfam:Na_H_Exchanger
|
116 |
515 |
4.4e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132405
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145195
|
| SMART Domains |
Protein: ENSMUSP00000123083
Gene: ENSMUSG00000037994
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
transmembrane domain
|
47 |
69 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0584 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
98% (61/62) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sodium hydrogen antiporters, such as NHEDC2, convert the proton motive force established by the respiratory chain or the F1F0 mitochondrial ATPase into sodium gradients that drive other energy-requiring processes, transduce environmental signals into cell responses, or function in drug efflux (Xiang et al., 2007 [PubMed 18000046]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele are viable and overtly normal, with no detectable abnormalities in osteoclast differentiation and function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
T |
A |
11: 58,771,020 (GRCm39) |
H167Q |
probably benign |
Het |
| Adamts20 |
T |
C |
15: 94,277,827 (GRCm39) |
T212A |
probably benign |
Het |
| Ap3b1 |
C |
A |
13: 94,554,607 (GRCm39) |
L248I |
probably damaging |
Het |
| Atl1 |
T |
G |
12: 70,005,973 (GRCm39) |
D426E |
probably benign |
Het |
| Cage1 |
T |
A |
13: 38,207,078 (GRCm39) |
I256F |
probably damaging |
Het |
| Calcr |
A |
T |
6: 3,708,484 (GRCm39) |
|
probably null |
Het |
| Canx |
T |
C |
11: 50,195,265 (GRCm39) |
T268A |
probably benign |
Het |
| Chd7 |
A |
T |
4: 8,866,353 (GRCm39) |
M842L |
possibly damaging |
Het |
| Clca4a |
T |
C |
3: 144,658,609 (GRCm39) |
T787A |
probably benign |
Het |
| Clstn3 |
T |
C |
6: 124,433,939 (GRCm39) |
Y407C |
probably damaging |
Het |
| Copa |
C |
A |
1: 171,929,791 (GRCm39) |
T286N |
probably damaging |
Het |
| Cyb5a |
G |
A |
18: 84,889,718 (GRCm39) |
R49Q |
possibly damaging |
Het |
| Def6 |
A |
G |
17: 28,438,950 (GRCm39) |
K219E |
probably damaging |
Het |
| Eif4g1 |
G |
T |
16: 20,497,593 (GRCm39) |
|
probably benign |
Het |
| Eif5 |
A |
T |
12: 111,508,183 (GRCm39) |
K161N |
probably benign |
Het |
| Fras1 |
C |
A |
5: 96,790,479 (GRCm39) |
T951K |
probably damaging |
Het |
| Gen1 |
A |
T |
12: 11,292,363 (GRCm39) |
N475K |
possibly damaging |
Het |
| Gm14569 |
T |
C |
X: 35,697,146 (GRCm39) |
Y521C |
probably benign |
Het |
| Gm6124 |
T |
A |
7: 38,870,529 (GRCm39) |
|
noncoding transcript |
Het |
| Gpt2 |
A |
T |
8: 86,252,188 (GRCm39) |
D501V |
probably benign |
Het |
| Gstm2 |
T |
C |
3: 107,893,370 (GRCm39) |
K31R |
probably benign |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Itga1 |
T |
A |
13: 115,138,102 (GRCm39) |
M428L |
probably benign |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Kcnn4 |
T |
C |
7: 24,076,867 (GRCm39) |
W139R |
probably benign |
Het |
| Kdm7a |
T |
A |
6: 39,143,602 (GRCm39) |
R380W |
probably null |
Het |
| Khdrbs1 |
T |
G |
4: 129,635,889 (GRCm39) |
D22A |
possibly damaging |
Het |
| Liph |
A |
T |
16: 21,795,000 (GRCm39) |
I204N |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,529,456 (GRCm39) |
E2033G |
possibly damaging |
Het |
| M6pr |
C |
T |
6: 122,291,982 (GRCm39) |
|
probably benign |
Het |
| Mrm1 |
A |
G |
11: 84,709,915 (GRCm39) |
I95T |
probably damaging |
Het |
| Mroh2a |
G |
T |
1: 88,182,657 (GRCm39) |
R1195L |
possibly damaging |
Het |
| Mug1 |
C |
A |
6: 121,856,311 (GRCm39) |
F1030L |
probably damaging |
Het |
| Naca |
C |
T |
10: 127,879,341 (GRCm39) |
|
probably benign |
Het |
| Nob1 |
A |
T |
8: 108,145,120 (GRCm39) |
|
probably benign |
Het |
| Nutm1 |
A |
C |
2: 112,080,154 (GRCm39) |
I587R |
probably damaging |
Het |
| Or1e26 |
A |
G |
11: 73,480,081 (GRCm39) |
V161A |
probably benign |
Het |
| Pcdhb2 |
A |
G |
18: 37,428,455 (GRCm39) |
K143E |
probably benign |
Het |
| Pcnt |
T |
C |
10: 76,228,227 (GRCm39) |
Q1646R |
probably benign |
Het |
| Piwil2 |
A |
T |
14: 70,646,365 (GRCm39) |
D390E |
probably benign |
Het |
| Pkhd1 |
A |
G |
1: 20,309,635 (GRCm39) |
L2771P |
probably damaging |
Het |
| Pla2g1b |
T |
A |
5: 115,608,947 (GRCm39) |
Y47* |
probably null |
Het |
| Plekhn1 |
T |
C |
4: 156,309,813 (GRCm39) |
T135A |
probably damaging |
Het |
| Pola1 |
T |
C |
X: 92,605,029 (GRCm39) |
Y968C |
probably damaging |
Het |
| Ppp1r26 |
C |
A |
2: 28,341,618 (GRCm39) |
T416K |
probably benign |
Het |
| Psmd1 |
A |
G |
1: 86,003,673 (GRCm39) |
I153V |
possibly damaging |
Het |
| Rcan2 |
A |
G |
17: 44,264,361 (GRCm39) |
D7G |
probably benign |
Het |
| Rexo5 |
T |
C |
7: 119,433,599 (GRCm39) |
I326T |
possibly damaging |
Het |
| Rps6kc1 |
A |
G |
1: 190,530,802 (GRCm39) |
|
probably benign |
Het |
| Shc1 |
T |
C |
3: 89,333,985 (GRCm39) |
S273P |
probably benign |
Het |
| Tas2r118 |
T |
C |
6: 23,969,293 (GRCm39) |
K256R |
probably benign |
Het |
| Tma16 |
C |
T |
8: 66,936,823 (GRCm39) |
|
probably null |
Het |
| Tnfaip2 |
T |
C |
12: 111,416,285 (GRCm39) |
F516L |
probably benign |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Ugt1a10 |
C |
T |
1: 88,142,845 (GRCm39) |
P113L |
probably damaging |
Het |
| Wdr35 |
A |
G |
12: 9,039,981 (GRCm39) |
D362G |
probably damaging |
Het |
| Wwp2 |
T |
C |
8: 108,184,610 (GRCm39) |
V106A |
probably benign |
Het |
| Zfp40 |
T |
A |
17: 23,395,693 (GRCm39) |
H230L |
possibly damaging |
Het |
| Zkscan17 |
T |
A |
11: 59,393,848 (GRCm39) |
M1L |
possibly damaging |
Het |
|
| Other mutations in Slc9b2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01626:Slc9b2
|
APN |
3 |
135,042,156 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL03091:Slc9b2
|
APN |
3 |
135,034,791 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03203:Slc9b2
|
APN |
3 |
135,031,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03377:Slc9b2
|
APN |
3 |
135,042,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02988:Slc9b2
|
UTSW |
3 |
135,024,179 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0008:Slc9b2
|
UTSW |
3 |
135,042,269 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0382:Slc9b2
|
UTSW |
3 |
135,024,183 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0628:Slc9b2
|
UTSW |
3 |
135,029,536 (GRCm39) |
splice site |
probably benign |
|
|
R1263:Slc9b2
|
UTSW |
3 |
135,042,156 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1478:Slc9b2
|
UTSW |
3 |
135,031,863 (GRCm39) |
missense |
probably benign |
0.45 |
|
R1809:Slc9b2
|
UTSW |
3 |
135,022,892 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2060:Slc9b2
|
UTSW |
3 |
135,032,027 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2119:Slc9b2
|
UTSW |
3 |
135,034,743 (GRCm39) |
splice site |
probably null |
|
|
R3196:Slc9b2
|
UTSW |
3 |
135,042,290 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3805:Slc9b2
|
UTSW |
3 |
135,030,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4127:Slc9b2
|
UTSW |
3 |
135,035,598 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4401:Slc9b2
|
UTSW |
3 |
135,042,305 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4622:Slc9b2
|
UTSW |
3 |
135,038,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6125:Slc9b2
|
UTSW |
3 |
135,036,457 (GRCm39) |
splice site |
probably null |
|
|
R7081:Slc9b2
|
UTSW |
3 |
135,027,698 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7166:Slc9b2
|
UTSW |
3 |
135,031,939 (GRCm39) |
missense |
unknown |
|
|
R7203:Slc9b2
|
UTSW |
3 |
135,036,422 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7307:Slc9b2
|
UTSW |
3 |
135,024,151 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7617:Slc9b2
|
UTSW |
3 |
135,042,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7722:Slc9b2
|
UTSW |
3 |
135,035,596 (GRCm39) |
missense |
probably null |
0.20 |
|
R7748:Slc9b2
|
UTSW |
3 |
135,031,940 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7750:Slc9b2
|
UTSW |
3 |
135,031,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8339:Slc9b2
|
UTSW |
3 |
135,030,363 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8703:Slc9b2
|
UTSW |
3 |
135,031,924 (GRCm39) |
nonsense |
probably null |
|
|
R8711:Slc9b2
|
UTSW |
3 |
135,030,351 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8810:Slc9b2
|
UTSW |
3 |
135,035,530 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9079:Slc9b2
|
UTSW |
3 |
135,042,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9229:Slc9b2
|
UTSW |
3 |
135,042,295 (GRCm39) |
missense |
probably benign |
|
|
R9369:Slc9b2
|
UTSW |
3 |
135,036,446 (GRCm39) |
missense |
probably benign |
0.37 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTAACACTTTCGTAGGCTG -3'
(R):5'- CAGATGAGGCTATGGACCTTGG -3'
Sequencing Primer
(F):5'- AACACTTTCGTAGGCTGCCATTG -3'
(R):5'- AGGCTATGGACCTTGGTCTTTC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation